Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

Alleles
G/A/T|Ancestral: G|Ambiguity code: D
Location

Chromosome 10:100989285 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM012074

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_063_PEO1_606075_0003, 13527

HGVS names

This variant has 16 HGVS names - Show

About this variant

This variant overlaps 54 transcripts and is associated with 2 phenotypes.

Variant displays